Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:cystic fibrosis
go back to main search page
Accession:DOID:1485 term browser browse the term
Definition:An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION.
Synonyms:exact_synonym: CF;   Fibrocystic Disease of Pancreas;   Mucoviscidosis;   Pancreas Fibrocystic Disease;   Pancreas Fibrocystic Diseases;   Pancreatic Cystic Fibrosis;   Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis;   Pulmonary Cystic Fibrosis;   cystic fibrosis of pancreas
 narrow_synonym: Nonclassic cystic fibrosis
 related_synonym: sweat chloride elevation without cystic fibrosis
 primary_id: MESH:D003550
 alt_id: OMIM:219700
 xref: GARD:6233;   ICD10CM:E84;   ICD9CM:277.0;   NCI:C2975;   ORDO:586
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
cystic fibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb1 adrenoceptor beta 1 ISO RGD PMID:20203292 RGD:5129107 NCBI chr 1:255,772,217...255,773,617
Ensembl chr 1:255,771,597...255,807,259
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO DNA:polymorphisms (human) RGD PMID:20203292 PMID:17502834 RGD:5129107, RGD:4145099 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
JBrowse link
G Adrb3 adrenoceptor beta 3 ISO protein:increased expression:bronchus RGD PMID:20203292 RGD:5129107 NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
JBrowse link
G Ager advanced glycosylation end product-specific receptor severity ISO DNA:polymorphism, haplotype:promoter:g.-429T>C (rs1800625) (human) RGD PMID:21993476 PMID:24127697 RGD:6767553, RGD:8695959 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Akp3 alkaline phosphatase 3, intestine, not Mn requiring ISO mRNA,protein:decreased expression:intestine: RGD PMID:21970994 RGD:14349050 NCBI chr 9:87,804,749...87,807,866
Ensembl chr 9:87,804,749...87,807,913
JBrowse link
G Bglap bone gamma-carboxyglutamate protein ISO protein:decreased expression:serum RGD PMID:16622660 RGD:6483578 NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
JBrowse link
G C5 complement C5 severity ISO RGD PMID:3540828 RGD:5130162 NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
JBrowse link
G Ccl11 C-C motif chemokine ligand 11 ISO protein:increased expression:paranasal sinus RGD PMID:17999785 RGD:4145455 NCBI chr10:67,028,328...67,032,929
Ensembl chr10:67,028,328...67,032,926
JBrowse link
G Ccl17 C-C motif chemokine ligand 17 ISO mRNA, protein:increased expression:neutrophil RGD PMID:18026571 RGD:4145491 NCBI chr19:10,202,317...10,203,768
Ensembl chr19:10,202,128...10,203,819
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:20438838 RGD:4143275 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO RGD PMID:20575639 PMID:19386685 RGD:5130907, RGD:5130902 NCBI chr10:68,466,469...68,467,941
Ensembl chr10:68,452,052...68,468,231
JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO protein:increased expression:respiratory system fluid/secretion, neutrophil RGD PMID:19017998 RGD:4145632 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990
JBrowse link
G Cd14 CD14 molecule susceptibility ISO protein:increased expression:Macrophages, Alveolar
DNA:polymorphism:promoter:c. -159 C>T
RGD PMID:20302606 PMID:19466271 RGD:4144794, RGD:4144796 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:blood RGD PMID:15102009 RGD:7248443 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cftr CF transmembrane conductance regulator severity
no_association
disease_progression
ISO
IMP
DNA:missense mutation:exon:p.W1282X(human)
ClinVar Annotator: match by term: Cystic fibrosis
ClinVar Annotator: match by term: Mucoviscidosis
ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:219700
ClinVar Annotator: match by null
DNA,protein:mutations,substitutions:exon:
DNA:mutation:exon:p.R117H(human)
DNA:nonsense mutation:cds;c. 2143delT (human)
DNA:mutation:cds:p.G551D (mouse)
DNA:insertion:exon:c.3904_3905insT (human)
DNA:mutations:multiple
DNA:mutation: :p.N1303K (human)
DNA:splice-site mutation:intron: 3272-26A>G (human)
DNA:mutations: :
DNA:deletion:exon:p.F508del(mouse)
DNA:missense mutations: :p.F508C, S1251N
DNA:missende mutation:exon:p.G551D (human)
protein:altered expression:lung
ClinVar
CTD
OMIM
PMID:754013 PMID:1282016 PMID:1282900 PMID:1283148 PMID:1283149 More... RGD:4140436, RGD:126928119, RGD:11566051, RGD:734772, RGD:4140394, RGD:4140393, RGD:4140439, RGD:4140481, RGD:4140401, RGD:4140392, RGD:4140429, RGD:4140440, RGD:4140450, RGD:4140464, RGD:4140428, RGD:4140465, RGD:4140438, RGD:4140442, RGD:4140422, RGD:4139910, RGD:4140435 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
JBrowse link
G Cftrem1Ang cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 1, Ang IMP RGD PMID:31942562 RGD:126928119
G Cftrem2Ang cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 2, Ang IMP RGD PMID:31942562 RGD:126928119
G Clca1 chloride channel accessory 1 ISO mRNA, protein:increased expression:respiratory system mucosa RGD PMID:15218996 RGD:4145657 NCBI chr 2:233,938,677...233,964,369
Ensembl chr 2:233,938,677...233,964,369
JBrowse link
G Clcn2 chloride voltage-gated channel 2 IDA RGD PMID:8811102 RGD:704390 NCBI chr11:80,197,741...80,211,657
Ensembl chr11:80,198,153...80,211,657
JBrowse link
G Csf3r colony stimulating factor 3 receptor ISO protein:increased expression:respiratory system fluid/secretion, neutrophil RGD PMID:19293384 RGD:5133738 NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
JBrowse link
G Cxcl1 C-X-C motif chemokine ligand 1 ISO protein:increased expression:respiratory system fluid/secretion
protein:increased expression:sputum
RGD PMID:20818377 PMID:20818377 RGD:5135034, RGD:5135034 NCBI chr14:17,193,364...17,195,143
Ensembl chr14:17,193,365...17,195,215
JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 ISO protein:increased expression:respiratory system fluid/secretion
protein:increased expression:sputum
RGD PMID:20818377 PMID:20818377 RGD:5135034, RGD:5135034 NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075
JBrowse link
G Cxcl3 C-X-C motif chemokine ligand 3 ISO RGD PMID:19597126 RGD:5135456 NCBI chr14:17,270,146...17,289,458
Ensembl chr14:17,270,146...17,289,511
JBrowse link
G Cxcl9 C-X-C motif chemokine ligand 9 ISO RGD PMID:19597126 RGD:5135456 NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 ISO RGD PMID:20818377 RGD:5135034 NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO protein:increased expression:respiratory system fluid/secretion, neutrophil RGD PMID:19017998 RGD:4145632 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 severity ISO DNA:polymorphism (human) RGD PMID:14593914 RGD:4889126 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
JBrowse link
G Dctn4 dynactin subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22772370 NCBI chr18:53,982,355...54,009,409
Ensembl chr18:53,982,358...54,009,399
JBrowse link
G Defb4 defensin beta 4 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:9843998 RGD:4892267 NCBI chr16:70,650,472...70,653,665
Ensembl chr16:70,650,472...70,653,665
JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:sputum (human) RGD PMID:10445603 RGD:4145062 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Eng endoglin ISO CTD Direct Evidence: marker/mechanism CTD PMID:30806029 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
JBrowse link
G Ephx1 epoxide hydrolase 1 ISO ClinVar Annotator: match by term: Cystic fibrosis ClinVar PMID:7516776 PMID:7892276 PMID:9288046 PMID:11283205 PMID:11406608 More... NCBI chr13:92,714,315...92,744,124
Ensembl chr13:92,714,315...92,790,235
JBrowse link
G Fas Fas cell surface death receptor severity ISO RGD PMID:18685642 RGD:12903971 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Faslg Fas ligand ISO RGD PMID:10567629 RGD:12904024 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis OMIM
ClinVar
PMID:8636449 PMID:9843982 PMID:10675363 PMID:15367919 PMID:18347005 More... NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
JBrowse link
G Gclc glutamate-cysteine ligase, catalytic subunit ISO RGD PMID:16690975 RGD:5134682 NCBI chr 8:78,629,899...78,668,547
Ensembl chr 8:78,630,127...78,668,544
JBrowse link
G Gstm1 glutathione S-transferase mu 1 no_association
severity
ISO DNA:deletion:: (human)
DNA:deletion: : (human)
DNA:deletion, haplotype:: (human)
RGD PMID:24593045 PMID:22407040 PMID:10195071 PMID:20140303 PMID:23758905 RGD:10401929, RGD:14700942, RGD:12798506, RGD:12792246, RGD:12792207 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstm3 glutathione S-transferase mu 3 ISO RGD PMID:15115915 RGD:5135040
G Gstm5 glutathione S-transferase, mu 5 ISO RGD PMID:15115915 RGD:5135040 NCBI chr 2:195,531,627...195,534,562
Ensembl chr 2:195,531,495...195,534,553
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO GAD PMID:15118671 RGD:1331525 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Gstt1 glutathione S-transferase theta 1 severity
no_association
ISO DNA:deletion, haplotype:: (human)
DNA:deletion: : (human)
DNA:deletion:: (human)
RGD PMID:23758905 PMID:22407040 PMID:20140303 PMID:24593045 RGD:12792207, RGD:14700942, RGD:12792246, RGD:10401929 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Havcr2 hepatitis A virus cellular receptor 2 ISO RGD PMID:21263071 RGD:5135530 NCBI chr10:30,882,484...30,914,018
Ensembl chr10:30,882,606...30,909,137
JBrowse link
G Hfe homeostatic iron regulator severity ISO DNA:missense mutations: :p.H63D, p.C282Y (human)
ClinVar Annotator: match by term: Mucoviscidosis
ClinVar PMID:8696333 PMID:8896550 PMID:8943161 PMID:9106528 PMID:9162021 More... RGD:14701045 NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G Hmox1 heme oxygenase 1 ISO mRNA:protein:increased expression:lung RGD PMID:15184199 RGD:4145410 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A severity ISO DNA:polymorphism, haplotype: :1267A>G (human) RGD PMID:21993476 PMID:21993476 RGD:6767553, RGD:6767553
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:serum: RGD PMID:8255671 RGD:12910480 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:respiratory tract epithelium (rat) RGD PMID:22461702 RGD:12904899 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:decreased expression:serum: RGD PMID:15310308 RGD:12743589 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G Il13 interleukin 13 ISO mRNA:increased expression:bronchoalveolar lavage fluid RGD PMID:15463872 RGD:4312589 NCBI chr10:37,790,130...37,792,687
Ensembl chr10:37,790,130...37,792,737
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:serum
protein:increased expression:lung
RGD PMID:19342416 PMID:21109552 RGD:4889105, RGD:4889130 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
JBrowse link
G Il18 interleukin 18 ISO protein:increased expression:serum RGD PMID:20026745 RGD:4889551 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
JBrowse link
G Il18bp interleukin 18 binding protein ISO protein:increased expression:serum RGD PMID:20026745 RGD:4889551 NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963
JBrowse link
G Il1a interleukin 1 alpha severity ISO protein:increased expression:serum RGD PMID:8333775 RGD:4142849 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il1b interleukin 1 beta severity ISO DNA:SNPs: :rs1143634, rs1143639 (human)
protein:increased expression:sputum
RGD PMID:19431193 PMID:10515411 RGD:4142844, RGD:4143181 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO protein:increased expression:sputum
protein:decreased expression:blood, neutrophil
RGD PMID:10515411 PMID:12547728 RGD:4143181, RGD:4143175 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:blood
protein:increased expression:lung
RGD PMID:16403491 PMID:20438838 RGD:5128672, RGD:4143275 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Il9 interleukin 9 ISO protein:increased expression:respiratory system mucosa RGD PMID:12782818 RGD:5128699 NCBI chr17:8,111,772...8,114,895
Ensembl chr17:8,111,772...8,114,895
JBrowse link
G Il9r interleukin 9 receptor ISO protein:increased expression:respiratory system mucosa RGD PMID:12782818 RGD:5128699 NCBI chr10:15,431,706...15,444,144
Ensembl chr10:15,431,706...15,441,990
JBrowse link
G Irf1 interferon regulatory factor 1 ISO protein:decreased expression:intestine epithelium, nasal cavity epithelium RGD PMID:10930443 RGD:5128720 NCBI chr10:37,917,155...37,924,166
Ensembl chr10:37,916,670...37,924,166
JBrowse link
G Lep leptin severity ISO RGD PMID:18353734 RGD:5128819 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
JBrowse link
G Lta lymphotoxin alpha severity ISO DNA:polymorphism, haplotype: :252A>G (human) RGD PMID:21993476 RGD:6767553 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
JBrowse link
G Mbl2 mannose binding lectin 2 severity ISO protein:decreased secretion:serum (human)
ClinVar Annotator: match by term: Cystic fibrosis
DNA:polymorphisms:5' utr, exon:multiple (human)
ClinVar PMID:7707811 PMID:8206524 PMID:10071515 PMID:10449435 PMID:15674393 More... RGD:4889443, RGD:4889447 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mif macrophage migration inhibitory factor severity ISO DNA:repeats:promoter RGD PMID:16179637 RGD:4891053 NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
JBrowse link
G Mir155 microRNA 155 ISO miRNA:increased expression:serum RGD PMID:27689251 RGD:25671378 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:bronchoalveolar lavage fluid
protein:increased expression:serum
RGD PMID:17526676 PMID:25545245 RGD:5130723, RGD:13204794 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Mpo myeloperoxidase severity ISO DNA:polymorphism:promoter:-463G>A (human) RGD PMID:20954832 PMID:16883063 RGD:5130986, RGD:5130968 NCBI chr10:72,594,458...72,608,862
Ensembl chr10:72,594,661...72,604,819
JBrowse link
G Muc1 mucin 1, cell surface associated ISO protein:increased expression:serum (human) RGD PMID:19960788 RGD:5131272 NCBI chr 2:174,635,559...174,640,738
Ensembl chr 2:174,635,995...174,640,733
JBrowse link
G Muc2 mucin 2, oligomeric mucus/gel-forming ISO mRNA:increased expression:nasal mucosa (human) RGD PMID:9155717 RGD:5131426 NCBI chr 1:196,796,257...196,831,740 JBrowse link
G Muc5ac mucin 5AC, oligomeric mucus/gel-forming ISO RGD PMID:17255563 RGD:5131191 NCBI chr 1:196,864,375...196,896,475 JBrowse link
G Muc5b mucin 5B, oligomeric mucus/gel-forming ISO protein:altered glycosylation:saliva RGD PMID:17255563 PMID:11845304 RGD:5131191, RGD:5131194 NCBI chr 1:196,916,861...196,948,830
Ensembl chr 1:196,916,825...196,949,250
JBrowse link
G Muc6 mucin 6, oligomeric mucus/gel-forming ISO RGD PMID:20309575 RGD:7364748 NCBI chr 1:196,726,678...196,764,842
Ensembl chr 1:196,726,807...196,764,842
JBrowse link
G Ndufs1 NADH:ubiquinone oxidoreductase core subunit S1 ISO protein:increased oxidation:colonic epithelium, mitochondrion (mouse) RGD PMID:21518732 RGD:6484688 NCBI chr 9:64,546,430...64,579,751
Ensembl chr 9:64,546,225...64,579,893
JBrowse link
G Nos1 nitric oxide synthase 1 disease_progression ISO mRNA:decreased expression:lung
DNA:repeats:5'utr
RGD PMID:12064512 PMID:14760158 PMID:11890749 RGD:5132865, RGD:5132627, RGD:5132868 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
JBrowse link
G Nos2 nitric oxide synthase 2 ISO mRNA,protein:decreased expression:respiratory mucosa RGD PMID:16517573 RGD:4891958 NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
JBrowse link
G Nos3 nitric oxide synthase 3 ISO DNA:polymorphism:exon: c. 894G>T (human) RGD PMID:12406848 RGD:4892049 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: Cystic fibrosis ClinVar PMID:9504411 PMID:17900274 PMID:18566672 PMID:28117099 NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO mRNA, protein:decreased expression, decreased activity:peripheral blood lymphocytes (human) RGD PMID:16875506 RGD:5683626 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346
JBrowse link
G Prss1 serine protease 1 IEP protein:increased expression:plasma RGD PMID:8625754 RGD:1599967 NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792
JBrowse link
G Ptgdr2 prostaglandin D2 receptor 2 ISO RGD PMID:18334635 RGD:5135022 NCBI chr 1:207,585,088...207,590,275
Ensembl chr 1:207,587,917...207,589,213
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO DNA:SNPs: :-765G>C and 8473T>C (human)
protein:increased expression:nasal mucosa
RGD PMID:20720307 PMID:18711055 RGD:5135298, RGD:5135523 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Ptx3 pentraxin 3 susceptibility ISO DNA:SNP:exon:rs35948036(human) RGD PMID:20927127 RGD:35673347 NCBI chr 2:150,487,513...150,493,323
Ensembl chr 2:150,487,513...150,493,323
JBrowse link
G RT1-M3-1 RT1 class Ib, locus M3, gene 1 ISO mRNA:decreased expression::decreased clearance of pathogens? RGD PMID:20044437 RGD:5144066 NCBI chr20:1,323,976...1,328,126
Ensembl chr20:1,287,521...1,328,117
JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15077107 PMID:19462466 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
JBrowse link
G Scnn1b sodium channel epithelial 1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16207733 PMID:16463024 NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451
JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:16463024 NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816
JBrowse link
G Serpina1 serpin family A member 1 ISO ClinVar Annotator: match by term: Cystic fibrosis ClinVar PMID:301355 PMID:1082356 PMID:1889260 PMID:2567291 PMID:6093867 More... NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
JBrowse link
G Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N severity ISO RGD PMID:11120905 RGD:5147439 NCBI chr 6:123,323,632...123,331,166 JBrowse link
G Sftpa1 surfactant protein A1 ISO protein:decreased expression:lung RGD PMID:15271694 RGD:4143403 NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
JBrowse link
G Sftpb surfactant protein B ISO mRNA:increased expression:respiratory system mucosa RGD PMID:17507829 RGD:4143381 NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
JBrowse link
G Sftpc surfactant protein C ISO protein:increased expression:lung RGD PMID:15271694 RGD:4143403 NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777
JBrowse link
G Sftpd surfactant protein D ISO protein:decreased expression, altered degradation:lung RGD PMID:18211966 RGD:4143502 NCBI chr16:17,046,491...17,058,968
Ensembl chr16:17,046,483...17,059,927
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:increased expression:lung
ClinVar Annotator: match by term: Cystic fibrosis
ClinVar
OMIM
PMID:16207846 PMID:17293864 PMID:18292811 PMID:18424453 PMID:25741868 More... RGD:4145125 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 ISO protein:increased expression:serum RGD PMID:25545245 RGD:13204794 NCBI chr  X:1,212,969...1,217,714
Ensembl chr  X:1,212,972...1,217,664
JBrowse link
G Tlr4 toll-like receptor 4 severity ISO protein:increased expression:monocyte RGD PMID:20717938 PMID:20522639 RGD:4144105, RGD:4144179 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tlr5 toll-like receptor 5 resistance ISO protein:increased expression:lung, sputum, neutrophil (human)
DNA:snp:cds:c.1174C>T rs5744168 (human)
RGD PMID:18684966 PMID:21068401 RGD:5129506, RGD:5129499 NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738
JBrowse link
G Tlr9 toll-like receptor 9 ISO DNA:snps:multiple (human) RGD PMID:20837493 RGD:5130208 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
JBrowse link
G Tnf tumor necrosis factor severity ISO protein:increased expression:sputum
DNA:polymorphism, haplotype:promoter:−308G>A (rs1800629) (human)
RGD PMID:7537567 PMID:21993476 RGD:4142846, RGD:6767553 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16463024 NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
JBrowse link
Cystic Fibrosis, Modifier of, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a9 solute carrier family 26 member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22466613 NCBI chr13:43,177,806...43,205,450
Ensembl chr13:43,177,867...43,204,330
JBrowse link
G Slc6a14 solute carrier family 6 member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22466613 NCBI chr  X:112,314,643...112,375,412
Ensembl chr  X:112,314,691...112,375,096
JBrowse link
G Slc9a3 solute carrier family 9 member A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22466613 NCBI chr 1:29,124,633...29,167,912
Ensembl chr 1:29,124,674...29,167,417
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    syndrome 8125
      cystic fibrosis 103
        Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality 0
        Cystic Fibrosis, Modifier of, 1 3
        Follicular Hamartoma, Alopecia, Cystic Fibrosis 0
        Lubani Al Saleh Teebi Syndrome 0
Path 2
Term Annotations click to browse term
  disease 17208
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9458
        genetic disease 8961
          monogenic disease 7129
            autosomal genetic disease 6276
              autosomal recessive disease 3443
                cystic fibrosis 103
                  Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality 0
                  Cystic Fibrosis, Modifier of, 1 3
                  Follicular Hamartoma, Alopecia, Cystic Fibrosis 0
                  Lubani Al Saleh Teebi Syndrome 0
paths to the root